ClinVar Miner

Variants in gene MUTYH

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
146 134 969 569 66 26 1646

Condition and significance breakdown #

Total conditions: 27
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MYH-associated polyposis 115 89 674 319 18 7 1142
Hereditary cancer-predisposing syndrome 79 54 602 381 18 0 1074
not provided 45 33 200 133 43 0 418
not specified 1 0 82 88 28 21 196
Carcinoma of colon 19 3 15 8 4 0 47
none provided 2 0 2 3 11 0 18
MYH-associated polyposis; Pilomatrixoma; Neoplasm of stomach 6 0 8 0 0 0 14
Breast carcinoma 6 1 0 0 1 0 8
Gastric cancer 2 2 0 0 0 0 4
Familial colorectal cancer 2 1 0 0 0 0 3
Familial multiple polyposis syndrome 0 0 1 0 2 0 3
MYH-associated polyposis; Neoplasm of stomach 1 1 0 0 0 0 2
Malignant tumor of breast 0 0 1 0 1 0 2
Malignant tumor of colon 1 0 1 0 0 0 2
B lymphoblastic leukemia lymphoma, no ICD-O subtype 1 0 0 0 0 0 1
Colonic neoplasm 0 1 0 0 0 0 1
Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas 1 0 0 0 0 0 1
Colorectal cancer 1 0 0 0 0 0 1
Colorectal polyposis 1 0 0 0 0 0 1
Endometrial cancer 1 0 0 0 0 0 1
Endometrial carcinoma 1 0 0 0 0 0 1
Familial cancer of breast 0 0 1 0 0 0 1
Hereditary breast and ovarian cancer syndrome 0 1 0 0 0 0 1
Ovarian carcinoma 1 0 0 0 0 0 1
Pilomatrixoma 0 1 0 0 0 0 1
Retinoblastoma 0 0 1 0 0 0 1
Small intestine carcinoid 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 66
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 103 51 632 302 17 0 1105
Ambry Genetics 70 37 417 211 11 0 746
Color Health, Inc 49 29 385 262 17 0 742
GeneDx 41 25 134 112 51 0 363
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 19 12 73 27 6 0 137
Counsyl 13 19 67 29 0 0 128
Quest Diagnostics Nichols Institute San Juan Capistrano 19 4 80 20 6 0 127
Department of Pathology and Laboratory Medicine,Sinai Health System 26 3 30 10 6 0 75
Mendelics 11 5 37 13 4 0 70
Illumina Clinical Services Laboratory,Illumina 6 3 41 5 4 0 59
PreventionGenetics,PreventionGenetics 3 1 15 9 12 0 40
CeGaT Praxis fuer Humangenetik Tuebingen 9 3 15 11 0 0 38
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 7 2 19 0 5 0 33
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 4 0 4 8 14 0 30
Clinical Genetics,Academic Medical Center 7 0 3 8 6 0 24
ITMI 0 0 0 0 0 21 21
Human Genetics - Radboudumc,Radboudumc 6 0 4 7 3 0 20
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 2 2 10 0 5 0 19
True Health Diagnostics 2 0 5 8 2 0 17
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 4 0 5 0 7 0 16
GeneKor MSA 3 3 9 0 0 0 15
Fulgent Genetics,Fulgent Genetics 6 0 8 0 0 0 14
Pathway Genomics 8 1 3 1 1 0 14
GeneReviews 12 0 0 0 0 0 12
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 5 0 2 2 3 0 12
Mayo Clinic Laboratories, Mayo Clinic 3 0 2 1 5 0 11
Medical Genetics Laboratory, Umraniye Training and Research Hospital,University of Health Sciences 6 4 0 0 0 0 10
OMIM 9 0 0 0 0 0 9
Genome Diagnostics Laboratory, Amsterdam University Medical Center 3 0 0 2 4 0 9
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 4 0 0 1 3 0 8
Baylor Genetics 2 2 4 0 0 0 7
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 5 2 0 0 0 0 7
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 6 1 0 0 0 0 7
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 6 1 0 0 0 0 7
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 7 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 5 1 0 0 0 0 6
Center for Human Genetics, Inc,Center for Human Genetics, Inc 2 1 2 0 0 0 5
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 1 0 2 1 1 0 5
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 1 0 3 1 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 2 2 1 0 1 0 5
University of Washington Department of Laboratory Medicine, University of Washington 3 1 0 1 0 0 5
Vantari Genetics 1 0 1 0 2 0 4
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 1 2 0 0 0 4
Genomics England Pilot Project,Genomics England 4 0 0 0 0 0 4
Genomic Research Center,Shahid Beheshti University of Medical Sciences 2 1 0 0 0 0 3
Center of Medical Genetics and Primary Health Care 0 0 3 0 0 0 3
Molecular Oncology Laboratory,Hospital Clínico San Carlos 1 1 1 0 0 0 3
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 1 0 2 0 0 0 3
Division of Medical Genetics, University of Washington 1 1 1 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 0 1 0 2
CSER _CC_NCGL, University of Washington 1 0 1 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 1 1 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 1 0 0 0 2
Department of Pediatrics,Memorial Sloan Kettering Cancer Center 2 0 0 0 0 0 2
Clinical Genetics Laboratory, Department of Pathology,Netherlands Cancer Institute 0 0 0 1 1 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 0 1
Endocrine oncology group, Uppsala University 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Snyder Lab, Genetics Department,Stanford University 1 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 0 1 0 0 0 1
Genomic Center,National Cancer Institute 1 0 0 0 0 0 1
Molecular Oncology Research Center,Barretos Cancer Hospital 0 1 0 0 0 0 1

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